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Updated: Apr 4, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

Lucie Carrier1, Giulia Mearini1, Konstantina Stathopoulou1

  • 1Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.

Gene
|September 12, 2015
PubMed

Insights

Mutations in the MYBPC3 gene are the most common cause of inherited hypertrophic cardiomyopathy (HCM). Gene therapy offers a promising new treatment for severe forms of this sarcomeric disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a sarcomeric disease characterized by left ventricular hypertrophy.
  • MYBPC3 mutations account for 40-50% of all HCM cases, making it the most frequently implicated gene.
  • MYBPC3 encodes cardiac myosin-binding protein C (cMyBP-C), crucial for sarcomeric structure and cardiac function.

Purpose of the Study:

  • To review the impact of MYBPC3 mutations on cMyBP-C function in HCM.
  • To discuss emerging gene therapy strategies for treating MYBPC3-associated HCM.

Main Methods:

  • Literature review of MYBPC3 mutations and their role in HCM pathophysiology.
  • Analysis of recent advancements in gene therapy for MYBPC3-related cardiomyopathies.

Main Results:

  • MYBPC3 mutations disrupt cMyBP-C function, leading to sarcomeric disarray and HCM.
  • Gene therapy approaches show potential for correcting MYBPC3 defects.

Conclusions:

  • MYBPC3 mutations are central to HCM pathogenesis.
  • Gene therapy represents a novel therapeutic avenue for patients with severe, genetically driven HCM, potentially offering an alternative to heart transplantation.

Keywords:
Cardiac myosin-binding protein CCardiomyopathiesGene therapyHypertrophy postranslational modificationsMYBPC3

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